Published in Lung on February 09, 2007
Fatigue, reduced sleep quality and restless legs syndrome in Charcot-Marie-Tooth disease: a web-based survey. J Neurol (2009) 0.95
Advances in Positive Airway Pressure Treatment Modalities for Hypoventilation Syndromes. Sleep Med Clin (2014) 0.78
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet (2015) 0.76
Sleep pattern in Charcot-Marie-Tooth disease type 2: report of family case series. J Clin Sleep Med (2015) 0.76
Anesthetic Management of a Patient With Charcot-Marie-Tooth Disease. Anesth Prog (2016) 0.75
Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach. J Multidiscip Healthc (2016) 0.75
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol (2006) 1.98
Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study. Lancet (2001) 1.69
Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33. J Neurol Neurosurg Psychiatry (1999) 1.59
Charcot-Marie-Tooth disease type 2 with restless legs syndrome. Neurology (1999) 1.55
Phrenic involvement in Charcot-Marie-Tooth disease. A pathologic documentation. Chest (1989) 1.49
Subclinical sensory neuropathy in late-onset restless legs syndrome. Neurology (2000) 1.45
Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann Neurol (1994) 1.26
Update and perspective on noninvasive respiratory muscle aids. Part 2: The expiratory aids. Chest (1994) 1.22
Diaphragmatic dysfunction in siblings with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Chest (1987) 1.22
Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis. Muscle Nerve (2000) 1.20
Charcot-Marie-Tooth disease: an update. Curr Opin Neurol (2004) 1.17
Neurodegeneration is associated to changes in serum insulin-like growth factors. Neurobiol Dis (2000) 1.12
Restless legs syndrome: clinicoetiologic correlates. Neurology (1996) 1.07
Apathy and hypersomnia are common features of myotonic dystrophy. J Neurol Neurosurg Psychiatry (1998) 1.02
Evidence of peripheral axonal neuropathy in primary restless legs syndrome. Mov Disord (1995) 1.02
The safety of flexible endoscopic evaluation of swallowing with sensory testing (FEESST): an analysis of 500 consecutive evaluations. Dysphagia (2000) 1.00
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. Hum Mutat (2000) 0.99
Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene. Neuromuscul Disord (2004) 0.99
Daytime somnolence in myotonic dystrophy. J Neurol (1999) 0.93
Changes in excitability of motor cortical circuitry in primary restless legs syndrome. Neurology (1999) 0.92
Respiratory muscle dysfunction in hereditary motor sensory neuropathy, type I. Arch Intern Med (1988) 0.92
Mechanics of the rib cage and diaphragm during sleep. J Appl Physiol Respir Environ Exerc Physiol (1977) 0.91
Evaluation of phrenic nerve and pulmonary function in hereditary motor and sensory neuropathy, type I. Muscle Nerve (1992) 0.91
Respiratory muscle weakness in Charcot-Marie-Tooth disease. A field study. Arch Intern Med (1989) 0.89
Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. Neuromuscul Disord (2002) 0.88
Diaphragmatic weakness in hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry (1990) 0.88
Phrenic nerve conduction study in demyelinating neuropathies and open-heart surgery. Clin Neurophysiol (2000) 0.87
Charcot-Marie-Tooth disease associated with Type 2 diabetes mellitus. Diabet Med (2001) 0.86
Marked improvement of glycaemic control with pioglitazone in a Type 2 diabetic patient associated with Charcot-Marie-Tooth disease. Diabet Med (2003) 0.84
"Burning feet" as the only manifestation of dominantly inherited sensory neuropathy. Mayo Clin Proc (1983) 0.82
Measurement of lung volumes. Clin Chest Med (1989) 0.80
[A case of Charcot-Marie-Tooth disease (CMT) type 1 complicated by diabetes mellitus (DM) showing bilateral phrenic nerve palsy]. Rinsho Shinkeigaku (2002) 0.80
Charcot-Marie-Tooth disease with diaphragmatic weakness. Intern Med (1992) 0.79
Charcot-Marie-Tooth disease type 1A: clinicopathological correlations in 24 patients. J Peripher Nerv Syst (2005) 0.78
Vocal fold paresis of Charcot-Marie-Tooth disease. Ann Otol Rhinol Laryngol (2001) 0.78
Spinal deformity associated with heritable neurological conditions: spinal muscular atrophy, Friedreich's ataxia, familial dysautonomia, and Charcot-Marie-Tooth disease. J Bone Joint Surg Am (1976) 0.77
Spinal deformity in Charcot-Marie-Tooth disease. Spine (Phila Pa 1976) (1994) 0.76
Hypertrophic neuropathy: atypical appearances resulting from the combination of type I hereditary motor and sensory neuropathy and diabetes mellitus. Neuropathol Appl Neurobiol (1997) 0.76
Electrodiagnostic evidence of phrenic nerve demyelination in Charcot-Marie-Tooth disease 1A. Am J Phys Med Rehabil (2003) 0.75
Anaesthesia and sleep apnoea. Br J Anaesth (2001) 0.75
Laryngeal electromyographic findings in Charcot-Marie-Tooth disease type II. Arch Neurol (1999) 0.75
[Respiratory disorders in type-1 hereditary motor and sensory neuropathy]. Nihon Kyobu Shikkan Gakkai Zasshi (1996) 0.75
Familial bilateral vocal cord paralysis and Charcot-Marie-tooth disease type II-C. Arch Otolaryngol Head Neck Surg (2001) 0.75
Neuropathic spinal arthropathy in Charcot-Marie-Tooth disease. A case report. J Bone Joint Surg Am (1997) 0.75
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet (2007) 4.93
Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol (2011) 4.37
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature (2007) 3.91
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. Science (2010) 2.89
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain (2006) 2.77
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet (2003) 2.15
Motor unit number estimation: a technology and literature review. Muscle Nerve (2014) 2.13
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J Peripher Nerv Syst (2011) 2.03
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci (2006) 1.96
Phenotypic clustering in MPZ mutations. Brain (2004) 1.94
High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial. JAMA Neurol (2013) 1.90
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2006) 1.85
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst (2003) 1.83
Lessons in molecular recognition: the effects of ligand and protein flexibility on molecular docking accuracy. J Med Chem (2004) 1.79
Asymmetric flaccid paralysis: a neuromuscular presentation of West Nile virus infection. Ann Neurol (2003) 1.72
Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A. Brain (2009) 1.70
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet (2010) 1.70
Update on Charcot-Marie-Tooth disease. Curr Neurol Neurosci Rep (2011) 1.66
Three-dimensional pharmacophore methods in drug discovery. J Med Chem (2010) 1.58
Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name. Neurology (2002) 1.57
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. Brain (2008) 1.55
Genetic testing practices for Charcot-Marie-Tooth type 1A disease. Muscle Nerve (2013) 1.49
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Invest Ophthalmol Vis Sci (2012) 1.47
Autoantibodies to lipoprotein-related protein 4 in patients with double-seronegative myasthenia gravis. Arch Neurol (2011) 1.47
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet (2007) 1.42
Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside. Brain (2005) 1.42
Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. Muscle Nerve (2004) 1.32
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. Ann Neurol (2002) 1.29
Efficacy and safety of a fixed combination of travoprost 0.004%/timolol 0.5% ophthalmic solution once daily for open-angle glaucoma or ocular hypertension. Am J Ophthalmol (2005) 1.28
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Hum Mol Genet (2005) 1.26
Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. Ann Neurol (2012) 1.25
Increased survival and function of SOD1 mice after glial cell-derived neurotrophic factor gene therapy. Hum Gene Ther (2002) 1.22
Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration. J Comp Neurol (2006) 1.19
Difference in neuropathogenetic mechanisms in human furious and paralytic rabies. J Neurol Sci (2005) 1.19
Metal templated design of protein interfaces. Proc Natl Acad Sci U S A (2009) 1.19
Metal-mediated self-assembly of protein superstructures: influence of secondary interactions on protein oligomerization and aggregation. J Am Chem Soc (2008) 1.18
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. Hum Mutat (2005) 1.18
Conduction block in PMP22 deficiency. J Neurosci (2010) 1.16
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet (2005) 1.15
Pathophysiology of human paralytic rabies. J Neurovirol (2005) 1.15
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat (2011) 1.13
Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. Arch Neurol (2007) 1.11
An update on monoclonal gammopathy and neuropathy. Curr Neurol Neurosci Rep (2012) 1.06
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. Hum Mol Genet (2008) 1.06
Ophthalmologic findings in Aicardi syndrome. J AAPOS (2012) 1.05
Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice. Brain (2012) 1.05
Inherited neuropathies: clinical overview and update. Muscle Nerve (2013) 1.05
Inherited peripheral neuropathies. Neurol Clin (2013) 1.04
Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. Arch Neurol (2006) 1.04
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. Brain (2012) 1.04
Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. Mol Vis (2006) 1.01
Distinct pathogenic processes between Fig4-deficient motor and sensory neurons. Eur J Neurosci (2011) 1.01
Control of protein oligomerization symmetry by metal coordination: C2 and C3 symmetrical assemblies through Cu(II) and Ni(II) coordination. Inorg Chem (2009) 1.00
An ABCA4 genomic deletion in patients with Stargardt disease. Hum Mutat (2003) 0.99
Facial and physical features of Aicardi syndrome: infants to teenagers. Am J Med Genet A (2005) 0.99
Real-life comparison of beclometasone dipropionate as an extrafine- or larger-particle formulation for asthma. Respir Med (2013) 0.98
Genetic testing in neuromuscular disease. Neurol Clin (2004) 0.98
Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease. J Neurol (2009) 0.97
Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A. J Peripher Nerv Syst (2008) 0.97
Comparison of conformational analysis techniques to generate pharmacophore hypotheses using catalyst. J Chem Inf Model (2005) 0.97
Charcot-Marie-Tooth neuropathies: diagnosis and management. Semin Neurol (2008) 0.96
Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age. Neurobiol Dis (2013) 0.96
Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease. Hum Mutat (2010) 0.94
Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis. J Peripher Nerv Syst (2014) 0.94
Charcot-Marie-Tooth disease and related genetic neuropathies. Continuum (Minneap Minn) (2012) 0.93
Exploiting QSAR models in lead optimization. Curr Opin Drug Discov Devel (2008) 0.93
Diabetes mellitus exacerbates motor and sensory impairment in CMT1A. J Peripher Nerv Syst (2008) 0.92
Phenotype expression in women with CMT1X. J Peripher Nerv Syst (2011) 0.92
A complete family of terminal uranium chalcogenides, [U(E)(N{SiMe3}2)3]- (E = O, S, Se, Te). J Am Chem Soc (2012) 0.91
Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease. Clin Biomech (Bristol, Avon) (2012) 0.91
The actinobacterial transcription factor RbpA binds to the principal sigma subunit of RNA polymerase. Nucleic Acids Res (2013) 0.91
PMP22 expression in dermal nerve myelin from patients with CMT1A. Brain (2009) 0.91
Anterior horn cell loss from subdural hygroma: a consequence of spontaneous spinal fluid leak. J Neurol Sci (2011) 0.89
Charcot-Marie-Tooth disease impairs quality of life: why? And how do we improve it? Neurology (2005) 0.89
Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease. J Peripher Nerv Syst (2013) 0.88
Distal symmetrical polyneuropathy: a definition for clinical research. A report of the American Academy of Neurology, the American Association of Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation. Arch Phys Med Rehabil (2005) 0.88
Monoclonal gammopathy and neuropathy. Curr Opin Neurol (2009) 0.88
Persistent CNS dysfunction in a boy with CMT1X. J Neurol Sci (2009) 0.87
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. Neurogenetics (2009) 0.87
Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol (2007) 0.87
Consensus criteria for the diagnosis of multifocal motor neuropathy. Muscle Nerve (2003) 0.87
Chronic inflammatory demyelinating polyneuropathy disease activity status: recommendations for clinical research standards and use in clinical practice. J Peripher Nerv Syst (2010) 0.86
Phacoemulsification and intraocular lens implantation before, during, or after canaloplasty in eyes with open-angle glaucoma: 3-year results. J Glaucoma (2015) 0.86
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. Am J Med Genet A (2013) 0.86
Non-random X chromosome inactivation in Aicardi syndrome. Hum Genet (2009) 0.86
Effect of host genetics on incidence of HIV neuroretinal disorder in patients with AIDS. J Acquir Immune Defic Syndr (2010) 0.86
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. Am J Med Genet A (2009) 0.85
Phenotypic presentation of the Ser63Del MPZ mutation. J Peripher Nerv Syst (2012) 0.84